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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4451 - 4475** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060903	thrombosis	ACE2 APOH C5AR1 CD40LG F11 F2 F3 F5 FCGR2A FGB HRG ITGA2 ITGAM MMP1 MMP3 MMP9 P2RY12 PIK3CB PLAU PROC SERPINC1 SERPINE1 TBXAS1 VTN	2147 2152 2153 2160 2212 2244 3273 350 3673 3684 4312 4314 4318 462 5054 5291 5328 5624 59272 64805 6916 728 7448 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081274	peroxisome biogenesis disorder 14B	PEX11B	8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111608	distal arthrogryposis type 5 Aliases: DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia	PIEZO2	63895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	CCL5 GGT1 HTR2A HTR2B NGF	2678 3356 3357 4803 6352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070158	hereditary sensory neuropathy type 1E Aliases: HSN1E hereditary sensory neuropathy type IE	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110399	retinitis pigmentosa 37 Aliases: RP37	NR2E3	10002	Homo sapiens (human)	Alliance of Genome Resources
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	LALBA TGFA	3906 7039	Homo sapiens (human)	Alliance of Genome Resources
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	ABCA4 PRPH2	24 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070168	spermatogenic failure 3 Aliases: SPGF3	SLC26A8 SRSF6	116369 6431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080625	severe congenital neutropenia 1	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110933	nemaline myopathy 11 Aliases: NEM11 nemaline myopathy 11, autosomal recessive	MYPN	84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	ACTC1	70	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112242	congenital symmetric circumferential skin creases 1 Aliases: CSCSC1	TUBB	203068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO2 AGER EDN1	177 1906 50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	CUL4B	8450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081348	congenital myopathy 16	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1 POLR3A POLR3B	11128 55703 8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	CHRM3	1131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110596	primary ciliary dyskinesia 21 Aliases: CILD21 primary ciliary dyskinesia 21 without situs inversus	DRC1	92749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:13148	acute cystitis	LCN2	3934	Homo sapiens (human)	Alliance of Genome Resources

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